A Case of Familial Mediterranean Fever Presenting with Pseudo-Bartter Syndrome

Abstract

Bartter Syndrome is a disease (sporadic or familial) characterized by hypochloremia, hypokalemia, hyponatremia, metabolic alkalosis, hyperaldosteronism, hyperreninemia and normal blood pressure. Pseudo-Bartter syndrome is characterized by hypochloremia associated with metabolic alkalosis and hypokalemia without any pathology in the tubular transport mechanism. Bartter syndrome and pseudo bartter syndrome have similar biochemical profile. Pseudo-Bartter syndrome is different from Bartter syndrome as extrarenal electrolyte loss occurs. Pseudo-Bartter syndrome may develop as a result of cystic fibrosis, inappropriate diuretic use, chlorine-poor diet, bulimia, cyclic vomiting, and laxative abuse. In the treatment of pseudo-bartter syndrome, the treatment of the underlying disease and the provision of fluid and electrolyte balance. Familial Mediterranean fever is characterized by non-infectious recurrent episodes of fever and serositis and is an autosomal recessive genetic disease that can develop amyloidosis over time. In this paper, we made the diagnosis of Familial Mediterranean fever in an 18-year-old male patient who presented with pseudo-Bartter syndrome. The association of pseudo-Bartter syndrome and Familial Mediterranean fever has not been previously described in the literature.